L48F (p.Leu48Phe) variant of RAF1 (P04049)
L48F (p.Leu48Phe) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The record also includes population frequency data, experimental measurements, and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- cosmic curated COSV52586
- ExAC rs752967378
- gnomAD rs752967378
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.506